Discover and read the best of Twitter Threads about #BRCA2
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Hello and welcome to September journal club! I’m Kathleen, PGY2 OBGYN resident at St. Luke’s in PA, and I’ll be your host for @AAGLJMIG journal club today. We’ll be discussing salpingectomy alone approach for risk reduction of ovarian cancer (see last tweet for link) #jmigjc
Throughout today and tomorrow, I’ll be posting about the article and responding to you in between cases and clinic. Hoping we can get some great discussion going! I’ll start with background this morning and return in the afternoon #jmigjc
As we all know, risk reducing salpingo-oophorectomy (RRSO) is recommended as the standard of case for patients with genetic dispositions to #OvarianCancer. The fallopian tube is now well established as site of origin for most ovarian cancers. #jmigjc
@my_helix @uk_biobank @my_helix took a look at 1,317 @uk_biobank phenotypes w/ 50,000 exomes released last week. Going beyond #GWAS, used gene-based collapsing analysis. Thanks @bmneale Pheasant pipeline for clean phenotypes, @hailgenetics for the tooling.
@my_helix @uk_biobank @bmneale @hailgenetics Found some stuff that we expected, #LDLR for #cholesterol, #MC1R for red hair; but counts too small for other known conditions like HBOC/#BRCA2 @ATorkmani @RobertCGreen @atulbutte @gabecasis
@my_helix @uk_biobank @bmneale @hailgenetics @atorkmani @RobertCGreen @atulbutte @gabecasis Some interesting findings: #GP1BB associated with mean platelet volume. #GP1BB variants have been implicated in bleeding and platelet disorders. 
